Jonathan L. Sebat: search on Z-Library

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1

Getting to the Cores of Autism

Iakoucheva, Lilia M., Muotri, Alysson R., Sebat, Jonathan

Journal:

Year:

2019

Language:

english

File:

PDF, 1.82 MB

english, 2019

2

Identifying schizophrenia patients who carry pathogenic genetic copy number variants using standard clinical assessment: retrospective cohort study

Foley, Claire, Heron, Elizabeth A., Harold, Denise, Walters, James, Owen, Michael, O'Donovan, Michael, Sebat, Jonathan, Kelleher, Eric, Mooney, Christina, Durand, Amy, Pinto, Carlos, Cormican, Paul, M

Journal:

The British Journal of Psychiatry

Year:

2020

Language:

english

File:

PDF, 199 KB

english, 2020

3

The effects of common structural variants on 3D chromatin structure

Shanta, Omar, Noor, Amina, Sebat, Jonathan

Journal:

Year:

2020

File:

PDF, 1.57 MB

2020

4

Common DNA sequence variation influences 3-dimensional conformation of the human genome

Gorkin, David U., Qiu, Yunjiang, Hu, Ming, Fletez-Brant, Kipper, Liu, Tristin, Schmitt, Anthony D., Noor, Amina, Chiou, Joshua, Gaulton, Kyle J., Sebat, Jonathan, Li, Yun, Hansen, Kasper D., Ren, Bing

Journal:

Year:

2019

Language:

english

File:

PDF, 3.41 MB

english, 2019

5

20EVALUATING GENETIC CAUSATION AND PERSONALIZED PHARMACOLOGICAL TREATMENT OF AN ULTRA-RARE DISEASE ASSOCIATED WITH DELETION OF CACNG2

Kleiber, Morgan, Chapman, Timothy, Maile, M.L., Hong, O., Purcell, R., Lippa, A., Roberts, Amanda, Sebat, Jonathan

Journal:

European Neuropsychopharmacology

Year:

2019

Language:

english

File:

PDF, 54 KB

english, 2019

6

Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders

Jonathan Sebat, Deborah L. Levy, Shane E. McCarthy

Journal:

Trends in Genetics

Year:

2009

Language:

english

File:

PDF, 263 KB

english, 2009

7

NEW FINDINGS FROM YOUNG INVESTIGATORS IN THE PSYCHIATRIC GENOMICS CONSORTIUM

Sebat, Jonathan, Agrawal, Arpana, Børglum, Anders

Journal:

European Neuropsychopharmacology

Year:

2019

Language:

english

File:

PDF, 48 KB

english, 2019

8

Common DNA sequence variation influences 3-dimensional conformation of the human genome

Gorkin, David U., Qiu, Yunjiang, Hu, Ming, Fletez-Brant, Kipper, Liu, Tristin, Schmitt, Anthony D., Noor, Amina, Chiou, Joshua, Gaulton, Kyle J., Sebat, Jonathan, Li, Yun, Hansen, Kasper D., Ren, Bing

Journal:

Year:

2019

File:

PDF, 3.41 MB

2019

9

forestSV: structural variant discovery through statistical learning

Michaelson, Jacob J, Sebat, Jonathan

Journal:

Year:

2012

Language:

english

File:

PDF, 509 KB

english, 2012

10

NEW FINDINGS FROM YOUNG INVESTIGATORS IN THE PSYCHIATRIC GENOMICS CONSORTIUM

Sebat, Jonathan, Agrawal, Arpana, Børglum, Anders

Journal:

European Neuropsychopharmacology

Year:

2019

File:

PDF, 48 KB

2019

11

Characterization of molecular and cellular phenotypes associated with a heterozygous CNTNAP2 deletion using patient-derived hiPSC neural cells

Lee, Inkyu S, Carvalho, Claudia M B, Douvaras, Panagiotis, Ho, Seok-Man, Hartley, Brigham J, Zuccherato, Luciana W, Ladran, Ian G, Siegel, Arthur J, McCarthy, Shane, Malhotra, Dheeraj, Sebat, Jonathan

Journal:

npj Schizophrenia

Year:

2015

Language:

english

File:

PDF, 2.82 MB

english, 2015

12

SU93. Targeted Treatment of a Genetic Mutation in Glycine Decarboxylase With d-Cycloserine in Psychotic Disorders

Levy, Deborah, Coleman, Michael, Godfrey, Laura, Morgan, Charity, Sebat, Jonathan, Ongur, Dost, McCarthy, Shane, Malhotra, Dheeraj, Vuckovic, Alexander, Smith, Kamiell, Kirchhoff, Colette, Suckow, Ray

Journal:

Schizophrenia Bulletin

Year:

2017

Language:

english

File:

PDF, 74 KB

english, 2017

13

Genomic Duplication and Overexpression of TJP2/ZO-2 Leads to Altered Expression of Apoptosis Genes in Progressive Nonsyndromic Hearing Loss DFNA51

Tom Walsh, Sarah B. Pierce, Danielle R. Lenz, Zippora Brownstein, Orit Dagan-Rosenfeld, Hashem Shahin, Wendy Roeb, Shane McCarthy, Alex S. Nord, Carlos R. Gordon, Ziva Ben-Neriah, Jonathan Sebat, Moie

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 1014 KB

english, 2010

14

Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome

Pagel, Kymberleigh A., Antaki, Danny, Lian, AoJie, Mort, Matthew, Cooper, David N., Sebat, Jonathan, Iakoucheva, Lilia M., Mooney, Sean D., Radivojac, Predrag, Kann, Maricel G

Journal:

PLoS Computational Biology

Year:

2019

Language:

english

File:

PDF, 3.12 MB

english, 2019

15

Reciprocal Duplication of the Williams-Beuren Syndrome Deletion on Chromosome 7q11.23 Is Associated with Schizophrenia

Mulle, Jennifer Gladys, Pulver, Ann E., McGrath, John A., Wolyniec, Paula S., Dodd, Anne F., Cutler, David J., Sebat, Jonathan, Malhotra, Dheeraj, Nestadt, Gerald, Conrad, Donald F., Hurles, Matthew,

Journal:

Biological Psychiatry

Year:

2014

Language:

english

File:

PDF, 1.20 MB

english, 2014

16

Joint Contributions of Rare Copy Number Variants and Common SNPs to Risk for Schizophrenia

Bergen, Sarah E., Ploner, Alexander, Howrigan, Daniel, O’Donovan, Michael C., Smoller, Jordan W., Sullivan, Patrick F., Sebat, Jonathan, Neale, Benjamin, Kendler, Kenneth S.

Journal:

American Journal of Psychiatry

Year:

2018

Language:

english

File:

PDF, 543 KB

english, 2018

17

Genomewide Association Study of Movement-Related Adverse Antipsychotic Effects

Karolina Åberg, Daniel E. Adkins, József Bukszár, Bradley T. Webb, Stanley N. Caroff, Del D. Miller, Jonathan Sebat, Scott Stroup, Ayman H. Fanous, Vladimir I. Vladimirov, Joseph L. McClay, Jeffrey A.

Journal:

Biological Psychiatry

Year:

2010

Language:

english

File:

PDF, 154 KB

english, 2010

18

Major changes in our DNA lead to major changes in our thinking

Sebat, Jonathan

Journal:

Nature Genetics

Year:

2007

Language:

english

File:

PDF, 140 KB

english, 2007

19

Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome

Pagel, Kymberleigh A., Antaki, Danny, Lian, AoJie, Mort, Matthew, Cooper, David N., Sebat, Jonathan, Iakoucheva, Lilia M., Mooney, Sean D., Radivojac, Predrag, Kann, Maricel G

Journal:

PLoS Computational Biology

Year:

2019

File:

PDF, 3.12 MB

2019

20

Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes

Grochowski, Christopher M., Gu, Shen, Yuan, Bo, TCW, Julia, Brennand, Kristen J., Sebat, Jonathan, Malhotra, Dheeraj, McCarthy, Shane, Rudolph, Uwe, Lindstrand, Anna, Chong, Zechen, Levy, Deborah L.,

Journal:

Year:

2018

Language:

english

File:

PDF, 946 KB

english, 2018

21

Genetics: Fish heads and human disease

Malhotra, Dheeraj, Sebat, Jonathan

Journal:

Year:

2012

Language:

english

File:

PDF, 406 KB

english, 2012

22

Divergent Levels of Marker Chromosomes in an hiPSC-Based Model of Psychosis

TCW, Julia, Carvalho, Claudia M.B., Yuan, Bo, Gu, Shen, Altheimer, Alyssa N., McCarthy, Shane, Malhotra, Dheeraj, Sebat, Jonathan, Siegel, Arthur J., Rudolph, Uwe, Lupski, James R., Levy, Deborah L.,

Journal:

Stem Cell Reports

Year:

2017

Language:

english

File:

PDF, 3.66 MB

english, 2017

23

SV2: Accurate Structural Variation Genotyping and De Novo Mutation Detection from Whole Genomes

Antaki, Danny, Brandler, William M, Sebat, Jonathan

Journal:

Year:

2017

Language:

english

File:

PDF, 458 KB

english, 2017

24

A CONTRIBUTION OF RARE COPY NUMBER VARIATIONS TO THE DEVELOPMENT OF ATTENTION DEFICIT HYPERACTIVITY DISORDER: GENOME-WIDE META-ANALYSES IN 12548 INDIVIDUALS

Zayats, Tetyana, Martin, Joanna, Thiruvahindrapuram, Bhooma, Wang, Zhuozhi, Howrigan, Daniel, Shanta, Omar, Neale, Benjamin, Sebat, Jonathan

Journal:

European Neuropsychopharmacology

Year:

2019

Language:

english

File:

PDF, 51 KB

english, 2019

25

84 16P11.2 PATIENT-DERIVED CEREBRAL ORGANOIDS SHOW MIGRATION AND SYNAPTIC DEFECTS

Urresti, Jorge, Losada, Patricia Moran, Zhang, Pan, Negraes, Priscilla D., Kyung-Yu, Nam, Trujillo, Cleber, Tejwani, Leon, Romero, Sarah, Amar, Megha, Antaki, Danny, Sebat, Jonathan, Yates, John, Muot

Journal:

European Neuropsychopharmacology

Year:

2019

File:

PDF, 49 KB

2019

26

RARE COPY NUMBER VARIATION AND COMMON POLYGENIC RISK IN BIPOLAR DISORDER SUBTYPES

Charney, Alexander, Sebat, Jonathan, MacDonald, Jeff

Journal:

European Neuropsychopharmacology

Year:

2019

Language:

english

File:

PDF, 52 KB

english, 2019

27

Differential Relationship of DNA Replication Timing to Different Forms of Human Mutation and Variation

Amnon Koren, Paz Polak, James Nemesh, Jacob J. Michaelson, Jonathan Sebat, Shamil R. Sunyaev, Steven A. McCarroll

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 770 KB

english, 2012

28

From De Novo Mutations to Personalized Therapeutic Interventions in Autism

Brandler, William M., Sebat, Jonathan

Journal:

Annual Review of Medicine

Year:

2015

Language:

english

File:

PDF, 432 KB

english, 2015

29

Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility Gene

Maricela Alarcón, Brett S. Abrahams, Jennifer L. Stone, Jacqueline A. Duvall, Julia V. Perederiy, Jamee M. Bomar, Jonathan Sebat, Michael Wigler, Christa L. Martin, David H. Ledbetter, Stanley F. Nels

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 810 KB

english, 2008

30

When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variants

Pagel, Kymberleigh A, Pejaver, Vikas, Lin, Guan Ning, Nam, Hyun-Jun, Mort, Matthew, Cooper, David N, Sebat, Jonathan, Iakoucheva, Lilia M, Mooney, Sean D, Radivojac, Predrag

Journal:

Year:

2017

Language:

english

File:

PDF, 550 KB

english, 2017

31

Spatiotemporal 16p11.2 Protein Network Implicates Cortical Late Mid-Fetal Brain Development and KCTD13-Cul3-RhoA Pathway in Psychiatric Diseases

Lin, Guan Ning, Corominas, Roser, Lemmens, Irma, Yang, Xinping, Tavernier, Jan, Hill, David E., Vidal, Marc, Sebat, Jonathan, Iakoucheva, Lilia M.

Journal:

Year:

2015

Language:

english

File:

PDF, 1.49 MB

english, 2015

32

Copy-number variants in patients with a strong family history of pancreatic cancer

Lucito, Robert, Suresh, Shubha, Walter, Kimberly, Pandey, Akhilesh, Lakshmi, B., Krasnitz, Alex, Sebat, Jonathan, Wigler, Michael, Klein, Alison P., Brune, Kieran, Palmisano, Emily, Maitra, Anirban, G

Journal:

Cancer Biology & Therapy

Year:

2007

Language:

english

File:

PDF, 356 KB

english, 2007

33

Computing Power and Sample Size for Case-Control Association Studies with Copy Number Polymorphism: Application of Mixture-Based Likelihood Ratio Test

Kim, Wonkuk, Gordon, Derek, Sebat, Jonathan, Ye, Kenny Q., Finch, Stephen J., Heutink, Peter

Journal:

Year:

2008

Language:

english

File:

PDF, 264 KB

english, 2008

34

Formation of Chimeric Genes by Copy-Number Variation as a Mutational Mechanism in Schizophrenia

Rippey, Caitlin, Walsh, Tom, Gulsuner, Suleyman, Brodsky, Matt, Nord, Alex S., Gasperini, Molly, Pierce, Sarah, Spurrell, Cailyn, Coe, Bradley P., Krumm, Niklas, Lee, Ming K., Sebat, Jonathan, McClell

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.43 MB

english, 2013

35

Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangements

Jobanputra, Vaidehi, Sebat, Jonathan, Troge, Jennifer, Chung, Wendy, Anyane-Yeboa, Kwame, Wigler, Michael, Warburton, Dorothy

Journal:

Genetics in Medicine

Year:

2005

Language:

english

File:

PDF, 1.72 MB

english, 2005

36

Metal chelating properties of pyridine-2,6-bis(thiocarboxylic acid) produced byPseudomonasspp. and the biological activities of the formed complexes

Marc S. Cortese, Andrzej Paszczynski, Thomas A. Lewis, Jonathan L. Sebat, Vladimir Borek, Ronald L. Crawford

Journal:

Year:

2002

Language:

english

File:

PDF, 257 KB

english, 2002

37

84 16P11.2 PATIENT-DERIVED CEREBRAL ORGANOIDS SHOW MIGRATION AND SYNAPTIC DEFECTS

Urresti, Jorge, Losada, Patricia Moran, Zhang, Pan, Negraes, Priscilla D., Kyung-Yu, Nam, Trujillo, Cleber, Tejwani, Leon, Romero, Sarah, Amar, Megha, Antaki, Danny, Sebat, Jonathan, Yates, John, Muot

Journal:

European Neuropsychopharmacology

Year:

2019

Language:

english

File:

PDF, 49 KB

english, 2019

38

Inferring the molecular and phenotypic impact of amino acid variants with MutPred2

Pejaver, Vikas, Urresti, Jorge, Lugo-Martinez, Jose, Pagel, Kymberleigh A., Lin, Guan Ning, Nam, Hyun-Jun, Mort, Matthew, Cooper, David N., Sebat, Jonathan, Iakoucheva, Lilia M., Mooney, Sean D., Radi

Journal:

Nature Communications

Year:

2020

File:

PDF, 1.38 MB

2020

39

A Pseudomonas stutzeri gene cluster encoding the biosynthesis of the CCl4-dechlorination agent pyridine-2,6-bis(thiocarboxylic acid)

Thomas A. Lewis, Marc S. Cortese, Jonathan L. Sebat, Tonia L. Green, Chang-Ho Lee, Ronald L. Crawford

Journal:

Environmental Microbiology

Year:

2000

Language:

english

File:

PDF, 263 KB

english, 2000

40

Modelling schizophrenia using human induced pluripotent stem cells

Brennand, Kristen J., Simone, Anthony, Jou, Jessica, Gelboin-Burkhart, Chelsea, Tran, Ngoc, Sangar, Sarah, Li, Yan, Mu, Yangling, Chen, Gong, Yu, Diana, McCarthy, Shane, Sebat, Jonathan, Gage, Fred H.

Journal:

Year:

2011

Language:

english

File:

PDF, 27 KB

english, 2011

41

PTRHD1 Loss-of-function mutation in an african family with juvenile-onset Parkinsonism and intellectual disability

Kuipers, Demy J.S., Carr, Jonathan, Bardien, Soraya, Thomas, Pearl, Sebate, Boiketlo, Breedveld, Guido J., van Minkelen, Rick, Brouwer, Rutger W.W., van Ijcken, Wilfred F.J., van Slegtenhorst, Marjon

Journal:

Movement Disorders

Year:

2018

Language:

english

File:

PDF, 676 KB

english, 2018

42

CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics

Dheeraj Malhotra, Jonathan Sebat

Journal:

Year:

2012

Language:

english

File:

PDF, 1.11 MB

english, 2012

43

5:45 PM THE GENETIC ARCHITECTURE OF SCHIZOPHRENIA: HOW DO CNVS AND POLYGENIC SCORES CONTRIBUTE TO DISEASE RISK?

Bergen, Sarah E., Smoller, Jordan, Sebat, Jonathan, Purcell, Shaun, Neale, Benjamin, Kendler, Kenneth

Journal:

Schizophrenia Research

Year:

2014

Language:

english

File:

PDF, 91 KB

english, 2014

44

Ranking of non-coding pathogenic variants and putative essential regions of the human genome

Wells, Alex, Heckerman, David, Torkamani, Ali, Yin, Li, Sebat, Jonathan, Ren, Bing, Telenti, Amalio, di Iulio, Julia

Journal:

Nature Communications

Year:

2019

Language:

english

File:

PDF, 1.29 MB

english, 2019

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